Comprehensive Interrogation of the Genetic Determinants of Female and Male Infertility: A New NGS Research Application Enabled by Improvements in Target Enrichment Technology

Unlike traditional PCR-based assays, next-generation sequencing (NGS) permits the simultaneous interrogation of multiple disease-causing variants from different variant classes across a multitude of genes. High performance, streamlined target enrichment technologies and workflows are essential to support the routine use of expanded, NGS-based assays in translational and clinical research.

In this Roche-sponsored webinar, Dr. Oscar Puig will discuss the development of an NGS panel for the detection of genetic variants with direct impact on female and male infertility. The panel, designed for the assessment of sex chromosome aneuploidies, Y chromosome microdeletions and variants in 87 genes (including promoters, 5’- and 3’-untranslated regions, exons and selected introns), is based on optimized SeqCap EZ Prime Choice Probes. Analytical validation was performed using the HyperCap workflow.

Dr. Jennifer Pavlica will review the HyperCap workflow in more detail. She will outline how the process was streamlined to reduce user intervention and enable end-to-end automation, and highlight recommended QC points. The inherent flexibility of this complete, single-vendor target enrichment solution will be demonstrated with key performance data from different inputs and sample types, including FFPE DNA.

Speakers

Oscar Puig, Chief Scientific Officer, Phosphorus

Oscar Puig is the Chief Scientific Officer at Phosphorus, a genetic testing company. Prior to that, he was a Biomarker Leader in Oncology at the Roche Innovation Center in New York. He earned his Ph.D. at the University of Valencia, Spain, and carried out postdoctoral research at the European Molecular Biology Laboratory, in Heidelberg, Germany, and in the lab of Bob Tjian, at UC Berkeley, CA. Before joining Roche in 2012, he worked at Merck and at the University of Helsinki, where he is a docent. Dr. Puig has 46 publications in peer-reviewed journals.

Jennifer Pavlica joined Kapa Biosystems, now Roche, in 2014 and is the Applications Team Manager for the Roche Diagnostics Corporation’s Sequencing and Life Science division. Previously in research and development at Life Technologies, she contributed to workflow optimization and automation for the SOLiD and Ion Torrent platforms. She obtained her Bachelor’s degree in Chemical Engineering from the University of Massachusetts Amherst, and her Master’s degree in Chemical and Biomolecular Engineering from the University of Pennsylvania.

Principal investigators, researchers, post-docs and bioinformatics professionals with an interest in target enrichment

What You Will Learn

How an NGS panel for the detection of genetic variants with direct impact on female and male infertility was developed

How the process was streamlined to reduce user intervention and enable end-to-end automation

How different inputs and sample types, including FFPE DNA, can be used

Xtalks Partner

Roche

Roche Sequencing Solutions is working to make next-generation sequencing simple and accessible enough for routine clinical use. We are developing differentiated, highly integrated end-to-end solutions for next-generation sequencing (NGS), resulting in a sample in, result out workflow. Roche is innovating across the sequencing workflow, from strong sample isolation and preparation tools, to novel sequencing technology, medical content, and advanced informatics solutions.

Unless explicitly stated otherwise, all Roche products and services referenced in this presentation/document are intended for the following use:
Research Use Only. Not for use in diagnostic procedures.
KAPA is a trademark of Roche. All other product names and trademarks are the property of their respective owners.

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